Canonical Allele Identifier: CA2466724167

Gene: G6PD

Linked Data

• dbSNP Id: rs2070381458

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534410_154534411del , CM000685.2:g.154534410_154534411del	GRCh38
NC_000023.10:g.153762625_153762626del , CM000685.1:g.153762625_153762626del	GRCh37
NC_000023.9:g.153415819_153415820del	NCBI36
NG_009015.2:g.18162_18163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.571_572del	ENSP00000377194.2:p.Phe191ProfsTer2
ENST00000439227.6:c.574_575del	ENSP00000395599.2:p.Phe192ProfsTer2
ENST00000696420.1:c.571_572del	ENSP00000512615.1:p.Phe191ProfsTer2
ENST00000696421.1:c.571_572del	ENSP00000512616.1:p.Phe191ProfsTer2
ENST00000696422.1:c.434_435del
ENST00000696423.1:c.437_438del
ENST00000696424.1:c.451_452del	ENSP00000512619.1:p.Phe151ProfsTer2
ENST00000696425.1:c.571_572del	ENSP00000512620.1:p.Phe191ProfsTer2
ENST00000696426.1:c.571_572del	ENSP00000512621.1:p.Phe191ProfsTer2
ENST00000696427.1:c.571_572del	ENSP00000512622.1:p.Phe191ProfsTer2
ENST00000696428.1:c.*413_*414del	ENSP00000512623.1:n.*413_*414del
ENST00000696429.1:c.571_572del	ENSP00000512624.1:p.Phe191ProfsTer2
ENST00000696430.1:c.571_572del	ENSP00000512625.1:p.Phe191ProfsTer2
ENST00000393562.10:c.571_572del MANE Select	ENSP00000377192.3:p.Phe191ProfsTer2
ENST00000369620.6:c.571_572del	ENSP00000358633.2:p.Phe191ProfsTer2
ENST00000393562.6:c.661_662del	ENSP00000377192.2:p.Phe221ProfsTer2
ENST00000393564.6:c.571_572del	ENSP00000377194.2:p.Phe191ProfsTer2
ENST00000433845.1:c.571_572del	ENSP00000394690.1:p.Phe191ProfsTer2
ENST00000439227.5:c.574_575del	ENSP00000395599.1:p.Phe192ProfsTer2
ENST00000440967.5:c.574_575del	ENSP00000400648.1:p.Phe192ProfsTer2
ENST00000621232.4:c.571_572del	ENSP00000483686.1:p.Phe191ProfsTer2
NM_000402.4:c.661_662del	NP_000393.4:p.Phe221ProfsTer2
NM_001042351.2:c.571_572del	NP_001035810.1:p.Phe191ProfsTer2
XM_005274657.2:c.664_665del	XP_005274714.1:p.Phe222ProfsTer2
XM_005274658.2:c.574_575del	XP_005274715.1:p.Phe192ProfsTer2
XM_011531132.1:c.664_665del	XP_011529434.1:p.Phe222ProfsTer2
NM_001360016.2:c.571_572del MANE Select	NP_001346945.1:p.Phe191ProfsTer2
NM_001042351.3:c.571_572del	NP_001035810.1:p.Phe191ProfsTer2